Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121908195
rs121908195
TPP1
1 1.000 0.120 11 6618776 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.800 1.000 19 1997 2016
dbSNP: rs121908209
rs121908209
TPP1
2 0.925 0.120 11 6617045 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.700 1.000 14 1997 2012
dbSNP: rs1057516667
rs1057516667
TPP1
1 1.000 0.120 11 6617777 splice acceptor variant C/G;T snv 0.700 0
dbSNP: rs113019349
rs113019349
TPP1
2 0.925 0.120 11 6616004 splice donor variant C/G;T snv 0.700 0
dbSNP: rs779615685
rs779615685
TPP1
1 1.000 0.120 11 6619383 splice donor variant C/G;T snv 0.700 0
dbSNP: rs121908197
rs121908197
TPP1
1 1.000 0.120 11 6616363 missense variant C/T snv 7.6E-05 8.4E-05 0.700 1.000 14 1997 2012
dbSNP: rs121908199
rs121908199
TPP1
2 0.925 0.120 11 6615542 missense variant C/T snv 0.700 1.000 14 1997 2012
dbSNP: rs121908203
rs121908203
TPP1
1 1.000 0.120 11 6615179 missense variant C/T snv 4.0E-06 1.4E-05 0.700 1.000 14 1997 2012
dbSNP: rs121908207
rs121908207
TPP1
1 1.000 0.120 11 6616718 missense variant C/T snv 0.700 1.000 14 1997 2012
dbSNP: rs119455954
rs119455954
TPP1
2 0.925 0.120 11 6616056 missense variant C/T snv 1.6E-05 4.9E-05 0.800 1.000 6 1997 2012
dbSNP: rs786204753
rs786204753
TPP1
2 0.925 0.120 11 6615217 stop gained C/T snv 0.700 1.000 3 2001 2012
dbSNP: rs1057516511
rs1057516511
TPP1
1 1.000 0.120 11 6614687 splice acceptor variant C/T snv 7.0E-06 0.700 0
dbSNP: rs119455956
rs119455956
TPP1
2 0.925 0.120 11 6615256 missense variant C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs1554901731
rs1554901731
TPP1
1 1.000 0.120 11 6616075 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1564854729
rs1564854729
TPP1
1 1.000 0.120 11 6616052 stop gained C/T snv 0.700 0
dbSNP: rs1564855725
rs1564855725
TPP1
5 0.882 0.160 11 6617621 splice region variant C/T snv 0.700 0
dbSNP: rs757953998
rs757953998
TPP1
1 1.000 0.120 11 6616750 missense variant C/T snv 1.2E-05 4.2E-05 0.700 0
dbSNP: rs765380155
rs765380155
TPP1
2 0.925 0.120 11 6616374 missense variant C/T snv 4.0E-06 1.4E-05 0.800 0
dbSNP: rs778232650
rs778232650
TPP1
1 1.000 0.120 11 6616411 frameshift variant CATAGCTC/- delins 4.0E-06 0.700 1.000 2 1999 2001
dbSNP: rs1057517313
rs1057517313
TPP1
1 1.000 0.120 11 6616728 frameshift variant G/- delins 0.700 0
dbSNP: rs121908202
rs121908202
TPP1
2 0.925 0.120 11 6615172 missense variant G/A snv 2.4E-05 0.800 1.000 17 1997 2013
dbSNP: rs121908205
rs121908205
TPP1
1 1.000 0.120 11 6617057 missense variant G/A snv 0.800 1.000 17 1997 2012
dbSNP: rs121908210
rs121908210
TPP1
1 1.000 0.120 11 6614608 missense variant G/A snv 0.700 1.000 14 1997 2012
dbSNP: rs28940573
rs28940573
TPP1
1 1.000 0.120 11 6617046 missense variant G/A snv 1.2E-05 7.0E-06 0.800 1.000 14 1997 2012
dbSNP: rs119455955
rs119455955
TPP1
4 0.851 0.120 11 6617040 stop gained G/A snv 2.2E-04 2.4E-04 0.710 1.000 9 1997 2017